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Distal monosomy 1p36

disorder
SNOMED 699306003CUI C1842870

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal vocalization
Very frequent (80-99%)HP:0002167
Brachydactyly
Very frequent (80-99%)HP:0001156
Camptodactyly
Very frequent (80-99%)HP:0012385
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Deep set eye
Very frequent (80-99%)HP:0000490
Delayed language development
Very frequent (80-99%)HP:0000750
Difficulty speaking
Very frequent (80-99%)HP:0002465
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Gait disturbance
Very frequent (80-99%)HP:0001288
Hypoacusis
Very frequent (80-99%)HP:0000365
Hypoplastic/small little finger
Very frequent (80-99%)HP:0009237
Hypotonia, in neonatal onset
Very frequent (80-99%)HP:0001319
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Lack of eyebrow curvature
Very frequent (80-99%)HP:0011228
Muscular hypotonia
Very frequent (80-99%)HP:0001252
No speech development
Very frequent (80-99%)HP:0001344
Poor school performance
Very frequent (80-99%)HP:0001249
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Small feet
Very frequent (80-99%)HP:0001773
Small midface
Very frequent (80-99%)HP:0011800
Small pointed chin
Very frequent (80-99%)HP:0000307
Undergrowth
Very frequent (80-99%)HP:0001508
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the eyebrow
Frequent (30-79%)HP:0000534
Abnormality of vision
Frequent (30-79%)HP:0000504
Asymmetric ears
Frequent (30-79%)HP:0010722
Atria septal defect
Frequent (30-79%)HP:0001631

Related Conditions

1p partial monosomy(parent)
Congenital malformation(parent)

Quick Facts

SNOMED CT
699306003
UMLS CUI
C1842870
Fully Specified Name
Chromosome 1p36 deletion syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.